Specterman, MJ; Behr, ER
(2023)
Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death.
Heart, 109 (6).
pp. 434-441.
ISSN 1468-201X
https://doi.org/10.1136/heartjnl-2021-320015
SGUL Authors: Specterman, Mark James Behr, Elijah Raphael
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Abstract
There have been remarkable advances in our knowledge of the underlying heritability of cardiac arrhythmias. Long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, progressive cardiac conduction disease and the short QT syndrome comprise the inherited arrhythmia syndromes (IASs). Pathogenic variants in cardiac ion channel and calcium handling protein genes lead to these conditions, usually in the absence of overt structural cardiac disease. Diagnosis is contingent on the ECG phenotype but genetic testing may help to confirm the diagnosis and provide information on the mechanism of arrhythmogenesis that may guide treatment and provide prognostic information in relation to the risk of sudden arrhythmic death. Clinical genetic testing uses 'panels' of genes that are the likely culprits for the IASs being investigated. An International Consortium (Clinical Genome Resource) has curated gene panels based on genetic and experimental evidence of causation of inherited conditions and that have a role in clinical genetic testing. A 'single gene' or monogenic basis for IASs exists but in future, missing heritability and incomplete penetrance will be uncovered by association of common variants through genome-wide association studies. Novel rare variants will also be detected through whole-genome sequencing. The formulation of polygenic risk scores will likely help to predict phenotypic expression and response to treatments/risk stratification and move genetic testing very much to the fore of the diagnostic process.
Item Type: |
Article
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Additional Information: |
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. This article has been accepted for publication in Heart, 2022 following peer review, and the Version of Record can be accessed online at http://doi.org/10.1136/heartjnl-2021-320015 |
Keywords: |
arrhythmias, cardiac, genetics, arrhythmias, cardiac, genetics, arrhythmias, cardiac, genetics, 1102 Cardiorespiratory Medicine and Haematology, 1103 Clinical Sciences, Cardiovascular System & Hematology |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
Journal or Publication Title: |
Heart |
ISSN: |
1468-201X |
Language: |
eng |
Dates: |
Date | Event |
---|
23 February 2023 | Published | 27 September 2022 | Published Online | 6 July 2022 | Accepted |
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Publisher License: |
Publisher's own licence |
Projects: |
Project ID | Funder | Funder ID |
---|
UNSPECIFIED | Robert Lancaster Memorial Fund | UNSPECIFIED |
|
PubMed ID: |
36167638 |
Web of Science ID: |
WOS:000861403500001 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/114971 |
Publisher's version: |
https://doi.org/10.1136/heartjnl-2021-320015 |
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